PURPOSE: To report a case of familial exudative vitreoretinopathy in which genetic testing was used to confirm the diagnosis with a new mutation identified in FZD4 gene. METHODS: A 28-year-old girl was addressed to our clinic for surgical management of a macular hole possibly associated with Coats disease. Multimodal imaging was performed including fundus photography, fundus autofluorescence, optical coherence tomography, fluorescein, and indocyanine green angiography. RESULTS: On examination, visual acuity was light perception secondary to previous retinal detachment and 20/32, respectively, in her right and left eye. Clinical and imaging evaluations showed findings suggestive for familial exudative vitreoretinopathy. Spectral domain optical coherence tomography study of the macula showed a macular pucker with lamellar macular hole and a conservative approach was preferred. After 18 months of observation, the patient underwent surgery secondary to the onset of a full thickness macular hole. After 24 months, the patient's vision was 20/32. Genetic testing was used to confirm the diagnosis demonstrating 2 new mutations in FZD4 gene. CONCLUSION: Our case emphasizes the importance of a prompt recognition of familial exudative vitreoretinopathy disease also using gene testing and a close follow-up to prevent and manage possible complications.
PURPOSE: To report a case of familial exudative vitreoretinopathy in which genetic testing was used to confirm the diagnosis with a new mutation identified in FZD4 gene. METHODS: A 28-year-old girl was addressed to our clinic for surgical management of a macular hole possibly associated with Coats disease. Multimodal imaging was performed including fundus photography, fundus autofluorescence, optical coherence tomography, fluorescein, and indocyanine green angiography. RESULTS: On examination, visual acuity was light perception secondary to previous retinal detachment and 20/32, respectively, in her right and left eye. Clinical and imaging evaluations showed findings suggestive for familial exudative vitreoretinopathy. Spectral domain optical coherence tomography study of the macula showed a macular pucker with lamellar macular hole and a conservative approach was preferred. After 18 months of observation, the patient underwent surgery secondary to the onset of a full thickness macular hole. After 24 months, the patient's vision was 20/32. Genetic testing was used to confirm the diagnosis demonstrating 2 new mutations in FZD4 gene. CONCLUSION: Our case emphasizes the importance of a prompt recognition of familial exudative vitreoretinopathy disease also using gene testing and a close follow-up to prevent and manage possible complications.